ClinVar Miner

Variants from Institute of Human Genetics,Klinikum rechts der Isar with conflicting interpretations

Location: Germany — Primary collection method: clinical testing
Minimum review status of the submission from Institute of Human Genetics,Klinikum rechts der Isar: Collection method of the submission from Institute of Human Genetics,Klinikum rechts der Isar:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
697 248 35 196 0 9 97 278

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Institute of Human Genetics,Klinikum rechts der Isar pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective risk factor other
pathogenic 34 172 63 5 2 1 4 2 5 1
likely pathogenic 24 1 33 2 1 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 125
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Invitae 0 125 0 20 0 0 35 54
GeneDx 0 174 0 34 0 0 6 40
GeneReviews 0 45 32 3 0 0 0 35
Ambry Genetics 0 61 0 18 0 0 8 26
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 12 0 0 13 25
Counsyl 0 36 0 16 0 0 6 22
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 75 0 6 0 0 10 15
OMIM 0 251 0 6 0 7 0 13
SIB Swiss Institute of Bioinformatics 0 7 0 8 0 0 3 11
Mendelics 0 28 0 5 0 0 5 10
Illumina Clinical Services Laboratory,Illumina 0 27 0 3 0 0 7 10
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 36 0 6 0 0 3 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 11 0 3 0 0 6 9
Baylor Genetics 0 38 0 6 0 0 2 8
Genetic Services Laboratory, University of Chicago 0 34 0 5 0 0 3 8
Fulgent Genetics,Fulgent Genetics 0 47 0 7 0 0 0 7
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 7 0 0 1 7
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 6 0 4 0 0 3 7
Athena Diagnostics Inc 0 48 0 1 0 0 5 6
Integrated Genetics/Laboratory Corporation of America 0 38 0 5 0 0 1 6
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 8 0 3 0 0 3 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 23 0 4 0 0 2 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 21 0 5 0 1 1 6
Inherited Neuropathy Consortium 0 1 0 0 0 0 6 6
University of Washington Center for Mendelian Genomics,University of Washington 0 0 0 4 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 3 0 4 0 0 1 4
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 4 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 7 0 3 0 0 1 4
Color 0 2 0 2 0 0 2 4
Undiagnosed Diseases Network,NIH 0 6 0 3 0 0 2 4
Broad Institute Rare Disease Group,Broad Institute 0 8 0 3 0 0 1 4
Gharavi Laboratory,Columbia University 0 4 0 4 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 22 0 2 0 0 1 3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 2 0 0 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 3 0 0 0 3
Blueprint Genetics 0 12 0 3 0 0 0 3
PharmGKB 0 0 0 0 0 3 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 3 0 2 0 0 1 3
Database of Curated Mutations (DoCM) 0 1 0 3 0 0 0 3
Yale Center for Mendelian Genomics,Yale University 0 0 0 3 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 4 0 3 0 0 0 3
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 0 0 1 0 0 1 2
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 5 0 1 0 0 1 2
Institute of Human Genetics,Cologne University 0 0 0 0 0 0 2 2
Richard Lifton Laboratory, Yale University School of Medicine 0 0 0 2 0 0 0 2
Academic Department of Medical Genetics, University of Cambridge 0 0 0 1 0 0 1 2
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 7 0 2 0 0 0 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 1 0 0 1 2
Center for Human Disease Modeling,Duke University Medical Center 0 1 0 2 0 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 0 2 0 2 0 0 0 2
Research and Development, ARUP Laboratories 0 11 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 9 0 2 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 0 8 0 1 0 0 1 2
Center for Human Genetics, Inc 0 4 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 11 0 0 0 0 1 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 0 0 0 1 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 7 0 0 0 0 1 1
PreventionGenetics,PreventionGenetics 0 1 0 1 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 6 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 2 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 1 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 0 0 0 1 1
RettBASE 0 6 0 0 0 0 1 1
George Lab Vanderbilt University 0 0 0 1 0 0 0 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 1 0 0 0 1
Department of Medical Genetics,Oslo University Hospital 0 0 0 1 0 0 0 1
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 0 1
University of British Columbia 0 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 0 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 2 0 1 0 0 0 1
Chan Lab,Boston Children's Hospital 0 0 0 1 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 0 1 0 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 0 0 1 1
Care4Rare-SOLVE, CHEO 0 0 0 0 0 0 1 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 8 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 3 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 6 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 4 0 1 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 0 1 0 0 0 1
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 0 0 0 1 0 0 0 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 1 0 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 0 0 1 1
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 0 0 1 0 0 1 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 0 0 0 1 1
Laboratory of Molecular Genetics,CHU RENNES 0 0 0 1 0 0 0 1
Geschwind lab,University of California Los Angeles 0 0 0 1 0 1 1 1
Department of Medical Biochemistry and Genetics,University of Turku 0 0 0 1 0 0 0 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 0 0 0 1 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 0 0 1 0 0 0 1
Robarts Research Institute,Western University 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 0 0 0 1 1
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 1 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 0 0 1 1
Fundacion Hipercolesterolemia Familiar 0 0 0 0 0 0 1 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 0 0 1 0 0 0 1
Iberoamerican FH Network 0 0 0 0 0 0 1 1
Department of Obstetrics and Gynecology,Helsinki University Hospital 0 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 0 0 1 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 0 1
Department of Traditional Chinese Medicine,Fujian Provincial Hospital 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory,State University of Campinas 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 5 0 1 0 0 0 1
ClinGen RASopathy Variant Curation Expert Panel 0 3 0 1 0 0 0 1
Pediatric Genomics Discovery Program,Yale University 0 0 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 1 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 1 0 1 0 0 1 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 0 0 1 1
Tehran Medical Genetics Laboratory 0 0 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 5 0 0 0 0 1 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 0 1
Breda Genetics srl 0 0 0 1 0 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 4 0 1 0 0 0 1
Genesis Genome Database 0 0 0 0 0 0 1 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 278
Download table as spreadsheet
HGVS dbSNP
Multiple alleles
NM_000016.5(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) rs1566641934
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936
NM_000051.3(ATM):c.1235+3A>G rs1417190414
NM_000051.3(ATM):c.5177+5G>A rs759373136
NM_000051.3(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000051.3(ATM):c.6898T>G (p.Trp2300Gly) rs1565520641
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser)
NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286
NM_000091.4(COL4A3):c.1594G>T (p.Gly532Cys)
NM_000091.4(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg)
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000113.2(TOR1A):c.907_909delGAG (p.Glu303del) rs80358233
NM_000138.4(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000157.3(GBA):c.1448T>C rs421016
NM_000170.2(GLDC):c.1654A>G (p.Met552Val) rs386833529
NM_000180.3(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp) rs1555518481
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs) rs1554159950
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000274.3(OAT):c.772-1G>A rs770390524
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)
NM_000284.4(PDHA1):c.738C>T (p.Gly246=) rs1555934379
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557
NM_000406.2(GNRHR):c.317A>G (p.Gln106Arg) rs104893836
NM_000406.2(GNRHR):c.350T>G (p.Leu117Arg) rs727505367
NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg) rs1085308012
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) rs375593493
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818
NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del) rs1554372756
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe) rs386134263
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000527.4(LDLR):c.1783C>T (p.Arg595Trp) rs373371572
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) rs121913596
NM_000540.2(RYR1):c.10347+1G>A rs111436401
NM_000540.2(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.2(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803
NM_000540.2(RYR1):c.7358T>C (p.Ile2453Thr) rs118192123
NM_000834.4(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_001015880.2(PAPSS2):c.809G>A (p.Gly270Asp) rs138943074
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001040142.2(SCN2A):c.2687C>T (p.Ala896Val) rs1057519526
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001098511.2(KIF2A):c.959C>T (p.Thr320Ile) rs1554042050
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) rs104894003
NM_001105537.3(ZNF142):c.1292delG (p.Cys431Leufs) rs1559296368
NM_001105537.3(ZNF142):c.3175C>T (p.Arg1059Ter) rs546151500
NM_001105537.3(ZNF142):c.817_818delAA (p.Lys273Glufs) rs1447313633
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001112741.1(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001126131.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001128849.2(SMARCA4):c.3557C>T (p.Ala1186Val)
NM_001130690.2(PDE10A):c.1001T>G (p.Phe334Cys) rs1554258695
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052
NM_001135745.2(ALS2):c.553del (p.Thr185fs) rs386134174
NM_001142301.1(TMEM67):c.2255T>C (p.Ile752Thr) rs267607119
NM_001142301.1(TMEM67):c.336del (p.Gly114fs) rs386834203
NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg) rs1190703859
NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg) rs753904927
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683
NM_001160036.2(RHOBTB2):c.1448G>A (p.Arg483His) rs1554504663
NM_001160036.2(RHOBTB2):c.1519C>T (p.Arg507Cys) rs1563292586
NM_001164277.1(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491
NM_001168272.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn) rs281864928
NM_001271208.2(NEB):c.24314_24317dup (p.Leu8106fs) rs781667543
NM_001271208.2(NEB):c.9619-2A>G rs375145370
NM_001276345.2(TNNT2):c.644G>C (p.Arg215Pro) rs121964860
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala) rs398123060
NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala) rs747618415
NM_001282225.2(ADA2):c.139G>T (p.Gly47Trp) rs202134424
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys) rs1555938796
NM_001308211.1(EARS2):c.320G>A (p.Arg107His) rs1021330566
NM_001308211.1(EARS2):c.328G>A (p.Gly110Ser) rs201842633
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001323289.2(CDKL5):c.554+1G>A rs1555950083
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684
NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.2(DHCR7):c.470T>C (p.Leu157Pro) rs753960624
NM_001376.5(DYNC1H1):c.1195A>G (p.Arg399Gly)
NM_001457.4(FLNB):c.1945C>T (p.Arg649Ter) rs80356517
NM_001605.2(AARS1):c.2738G>A (p.Gly913Asp) rs369774476
NM_001743.6(CALM2):c.396T>G (p.Asp132Glu) rs398124648
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002087.3(GRN):c.708+1G>A rs63749817
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714
NM_002437.5(MPV17):c.376-9T>G rs368900406
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg) rs201186470
NM_002641.3(PIGA):c.355C>T (p.Arg119Trp) rs587777396
NM_002693.2(POLG):c.911T>G (p.Leu304Arg) rs121918044
NM_002693.2(POLG):c.915C>G (p.Ser305Arg) rs769410130
NM_002730.3(PRKACA):c.617T>G (p.Leu206Arg) rs386352352
NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.4(PTPN11):c.166A>G (p.Ile56Val) rs397507504
NM_002834.4(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser) rs774047299
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_003073.5(SMARCB1):c.1085_1087AGA[2] (p.Lys364del) rs875989800
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003482.3(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) rs587784363
NM_003647.3(DGKE):c.889-1G>A rs312262696
NM_003919.3(SGCE):c.812G>A (p.Cys271Tyr)
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966
NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu) rs565090080
NM_004321.7(KIF1A):c.2606G>A (p.Arg869His) rs201742042
NM_004321.7(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004341.5(CAD):c.1843-3C>T rs1057519262
NM_004341.5(CAD):c.98T>G (p.Met33Arg) rs751610198
NM_004366.6(CLCN2):c.71G>A (p.Gly24Asp) rs1085307938
NM_004369.3(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004523.4(KIF11):c.2922G>A (p.Pro974=) rs1554863201
NM_004646.3(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586
NM_005591.3(MRE11):c.77T>C (p.Met26Thr) rs372068015
NM_005629.4(SLC6A8):c.1661C>T (p.Pro554Leu) rs397515559
NM_005859.5(PURA):c.640G>T (p.Glu214Ter)
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) rs863225082
NM_006295.3(VARS1):c.1210C>T (p.Arg404Trp) rs749228986
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058
NM_006593.4(TBR1):c.1581_1587GGCTGCA[3] (p.Thr532fs) rs869312704
NM_006702.5(PNPLA6):c.2810G>A (p.Gly937Glu)
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln) rs1057519546
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp) rs1554065887
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297
NM_012123.4(MTO1):c.1430G>A (p.Arg477His) rs201544686
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp) rs748152539
NM_012144.4(DNAI1):c.1003G>T (p.Val335Phe) rs11793196
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser) rs79833450
NM_013275.6(ANKRD11):c.2171_2174CAAA[1] (p.Asn725fs) rs886039734
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014625.3(NPHS2):c.156del (p.Thr53fs) rs1272948499
NM_014625.3(NPHS2):c.413G>A (p.Arg138Gln) rs74315342
NM_014625.3(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737
NM_014727.2(KMT2B):c.1633C>T (p.Arg545Ter) rs1057519279
NM_014874.3(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014946.3(SPAST):c.1360G>A (p.Glu454Lys)
NM_014946.3(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_015133.5(MAPK8IP3):c.1732C>T (p.Arg578Cys) rs1567203083
NM_015697.8(COQ2):c.590G>A (p.Arg197His) rs121918231
NM_015836.3(WARS2):c.37T>G (p.Trp13Gly) rs139548132
NM_016011.4(MECR):c.772C>T (p.Arg258Trp) rs145192716
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016035.5(COQ4):c.469C>A (p.Gln157Lys) rs1045118320
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_016430.3(PIGP):c.306del (p.Glu103fs) rs778481061
NM_016835.4(MAPT):c.1789_1791AAG[1] (p.Lys598del) rs63750688
NM_016835.4(MAPT):c.1959G>C (p.Gln653His)
NM_017547.4(FOXRED1):c.406C>T (p.Arg136Trp) rs373075574
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly) rs201735454
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) rs765211108
NM_018972.4(GDAP1):c.349dup (p.Tyr117fs)
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter) rs199835443
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly) rs104894342
NM_020638.3(FGF23):c.535C>T (p.Arg179Trp) rs28937882
NM_020745.4(AARS2):c.1534G>C (p.Asp512His) rs146512155
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp) rs138119149
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) rs200187887
NM_020919.4(ALS2):c.1867_1868del (p.Leu623fs) rs386134181
NM_020919.4(ALS2):c.601C>T (p.Arg201Ter)
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064
NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys) rs886039494
NM_020988.3(GNAO1):c.626G>A (p.Arg209His) rs797044878
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn) rs773618224
NM_021625.4(TRPV4):c.935C>T (p.Ala312Val) rs751139506
NM_021629.4(GNB4):c.229G>A (p.Gly77Arg) rs1553851490
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418
NM_022445.4(TPK1):c.501+4A>T rs375169579
NM_023110.2(FGFR1):c.1977+1G>A rs876661334
NM_024577.3(SH3TC2):c.3601C>T (p.Gln1201Ter) rs80338937
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024996.5(GFM1):c.748C>T (p.Arg250Trp) rs139430866
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs) rs312262759
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565
NM_030662.3(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806
NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp) rs121918525
NM_031418.4(ANO3):c.1528G>A (p.Glu510Lys)
NM_032856.3(WDR73):c.766dup (p.Arg256Profs) rs727502864
NM_032861.4(SERAC1):c.91+6T>C rs1554265452
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp)
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_033453.4(ITPA):c.359_366dup (p.Gly123fs) rs1407446171
NM_033500.2(HK1):c.1334C>T (p.Thr445Met) rs1057517928
NM_080647.1(TBX1):c.385G>A (p.Glu129Lys) rs1445910672
NM_080877.2(SLC34A3):c.1561dup (p.Leu521fs) rs765816079
NM_080877.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076
NM_080916.3(DGUOK):c.155C>T (p.Ser52Phe) rs1204316787
NM_130466.4(UBE3B):c.2990G>C (p.Arg997Pro) rs539407162
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255
NM_138927.3(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_145207.3(SPATA5):c.983_985CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.649dup (p.Arg217fs) rs587778771
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) rs80356537
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152778.3(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_153717.3(EVC):c.2894+3A>G rs1424976594
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426
NM_172057.2(KCNH2):c.1823G>A (p.Arg608His) rs199473011
NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg) rs730882175
NM_176787.5(PIGN):c.2284-1G>C rs760977825
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp) rs746882521
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter) rs775011495
NM_183357.2(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) rs730882246
NM_198271.4(LMOD3):c.1648C>T (p.Leu550Phe) rs1057519128
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584
NM_213599.2(ANO5):c.191dupA rs137854521
Single allele

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